Submissions for variant NM_002878.4(RAD51D):c.83-5T>G

dbSNP: rs1567735928

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Color Diagnostics, LLC DBA Color Health	RCV000774867	SCV000908886	uncertain significance	Hereditary cancer-predisposing syndrome	2022-03-02	criteria provided, single submitter	clinical testing	This variant causes a T to G nucleotide substitution at the -5 position of intron 1 of the RAD51D gene. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with hereditary cancer in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
Ambry Genetics	RCV000774867	SCV002681516	uncertain significance	Hereditary cancer-predisposing syndrome	2024-09-16	criteria provided, single submitter	clinical testing	The c.83-5T>G intronic variant results from a T to G substitution 5 nucleotides upstream from coding exon 2 in the RAD51D gene. This nucleotide position is highly conserved in available vertebrate species. In silico splice site analysis predicts that this alteration may weaken the native splice acceptor site; however, direct evidence is insufficient at this time (Ambry internal data). Based on the available evidence, the clinical significance of this variant remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp	RCV003642923	SCV004554472	uncertain significance	Breast-ovarian cancer, familial, susceptibility to, 4	2022-12-17	criteria provided, single submitter	clinical testing	This sequence change falls in intron 1 of the RAD51D gene. It does not directly change the encoded amino acid sequence of the RAD51D protein. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with RAD51D-related conditions. ClinVar contains an entry for this variant (Variation ID: 630001). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.